Scientific background:

Summary: Glycoprotein 1b is a receptor exposed on the surface of platelets where it binds von Willebrand factor. Mutations can cause the autosomal recessive or dominant form of Bernard-Soulier syndrome. Genetic variations of this gene have also been associated with nonarteritic anterior ischemic optic neuropathy.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		10 working days
		Effort		little
		Specimen		DNA
		Quality assessment		Internal quality control only
	All known and new missense, nonsense and splice mutations can be detected.
	clinical test	Method		Carrier testing
		Turn-around time		5 working days
		Effort		little
		Specimen		DNA
		Quality assessment		Internal quality control only
	The test is only specific about the mutation already known in this kindred.

Literature: 

Salomon O et al. (2004) Nonarteritic anterior ischemic optic neuropathy is associated with a specific platelet polymorphism located on the glycoprotein Ibalpha gene.
Murata M et al. (1993) Expression of the phenotypic abnormality of platelet-type von Willebrand disease in a recombinant glycoprotein Ib alpha fragment.
Miller JL et al. (1991) Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease.
Russell SD et al. (1993) Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor.
Savoia A et al. (2001) Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome.